ERMARD

Chr 6AD

ER membrane associated RNA degradation

Also known as: C6orf70, PVNH6, dJ266L20.3

NCBI Gene: 55780 ENSG00000130023 UniProt: Q5T6L9 OMIM: 615532

This endoplasmic reticulum membrane protein with two transmembrane domains is required for proper neuronal migration during brain development. Mutations cause periventricular nodular heterotopia-6 (PVNH6), a malformation where neurons fail to migrate from the ventricular zone and form nodules along the lateral ventricles, inherited in an autosomal dominant pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Periventricular nodular heterotopia 6MIM #615544

Clinical highlights

Gene-disease validity (ClinGen)

periventricular nodular heterotopia · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.02

LOEUF

LOF

Mechanism· G2P